Biomaterial Database

Valproate as a cause of hyperammonemia in heterozygotes with ornithine-transcarbamylase deficiency. 1995

M Leão

Department of Neurology and Neurosurgery, Hospital de S. João, Porto, Portugal.

UI	MeSH Term	Description	Entries
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D004830	Epilepsy, Tonic-Clonic	A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)	Epilepsy, Grand Mal,Epilepsy, Major,Grand Mal Seizure Disorder,Major Motor Seizure Disorder,Seizure Disorder, Tonic Clonic,Convulsions, Grand Mal,Cryptogenic Tonic-Clonic Epilepsy,Epilepsy, Tonic-Clonic, Cryptogenic,Epilepsy, Tonic-Clonic, Familial,Epilepsy, Tonic-Clonic, Symptomatic,Familial Tonic-Clonic Epilepsy,Seizure Disorder, Grand Mal,Seizure Disorder, Major Motor,Symptomatic Tonic-Clonic Epilepsy,Tonic Clonic Convulsions,Tonic-Clonic Convulsion Disorder,Tonic-Clonic Convulsion Syndrome,Tonic-Clonic Seizure Disorder,Tonic-Clonic Seizure Syndrome,Convulsion Disorder, Tonic-Clonic,Convulsion Disorders, Tonic-Clonic,Convulsion Syndrome, Tonic-Clonic,Convulsion Syndromes, Tonic-Clonic,Convulsion, Grand Mal,Convulsion, Tonic Clonic,Convulsions, Tonic Clonic,Cryptogenic Tonic Clonic Epilepsy,Cryptogenic Tonic-Clonic Epilepsies,Disorder, Tonic-Clonic Convulsion,Disorder, Tonic-Clonic Seizure,Disorders, Tonic-Clonic Convulsion,Disorders, Tonic-Clonic Seizure,Epilepsies, Cryptogenic Tonic-Clonic,Epilepsies, Familial Tonic-Clonic,Epilepsies, Symptomatic Tonic-Clonic,Epilepsies, Tonic-Clonic,Epilepsy, Cryptogenic Tonic-Clonic,Epilepsy, Familial Tonic-Clonic,Epilepsy, Symptomatic Tonic-Clonic,Epilepsy, Tonic Clonic,Familial Tonic Clonic Epilepsy,Familial Tonic-Clonic Epilepsies,Grand Mal Convulsion,Grand Mal Convulsions,Grand Mal Epilepsy,Major Epilepsies,Major Epilepsy,Seizure Disorder, Tonic-Clonic,Seizure Disorders, Tonic-Clonic,Seizure Syndrome, Tonic-Clonic,Seizure Syndromes, Tonic-Clonic,Symptomatic Tonic Clonic Epilepsy,Symptomatic Tonic-Clonic Epilepsies,Syndrome, Tonic-Clonic Convulsion,Syndrome, Tonic-Clonic Seizure,Syndromes, Tonic-Clonic Convulsion,Syndromes, Tonic-Clonic Seizure,Tonic Clonic Convulsion,Tonic Clonic Convulsion Disorder,Tonic Clonic Convulsion Syndrome,Tonic Clonic Seizure Disorder,Tonic Clonic Seizure Syndrome,Tonic-Clonic Convulsion Disorders,Tonic-Clonic Convulsion Syndromes,Tonic-Clonic Epilepsies,Tonic-Clonic Epilepsies, Cryptogenic,Tonic-Clonic Epilepsies, Familial,Tonic-Clonic Epilepsies, Symptomatic,Tonic-Clonic Epilepsy,Tonic-Clonic Epilepsy, Cryptogenic,Tonic-Clonic Epilepsy, Familial,Tonic-Clonic Epilepsy, Symptomatic,Tonic-Clonic Seizure Disorders,Tonic-Clonic Seizure Syndromes
D005260	Female		Females
D006579	Heterozygote	An individual having different alleles at one or more loci regarding a specific character.	Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000641	Ammonia	A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.
D014635	Valproic Acid	A fatty acid with anticonvulsant and anti-manic properties that is used in the treatment of EPILEPSY and BIPOLAR DISORDER. The mechanisms of its therapeutic actions are not well understood. It may act by increasing GAMMA-AMINOBUTYRIC ACID levels in the brain or by altering the properties of VOLTAGE-GATED SODIUM CHANNELS.	Dipropyl Acetate,Divalproex,Sodium Valproate,2-Propylpentanoic Acid,Calcium Valproate,Convulsofin,Depakene,Depakine,Depakote,Divalproex Sodium,Ergenyl,Magnesium Valproate,Propylisopropylacetic Acid,Semisodium Valproate,Valproate,Valproate Calcium,Valproate Sodium,Valproic Acid, Sodium Salt (2:1),Vupral,2 Propylpentanoic Acid
D020163	Ornithine Carbamoyltransferase Deficiency Disease	An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)	OTC Deficiency,Ornithine Transcarbamylase Deficiency,Ornithine Transcarbamylase Deficiency Disease,Deficiency Disease, Ornithine Carbamoyltransferase,Deficiency Disease, Ornithine Transcarbamylase,Ornithine Carbamoyltransferase Deficiency,Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To,Deficiencies, OTC,Deficiencies, Ornithine Transcarbamylase,Deficiency, OTC,Deficiency, Ornithine Transcarbamylase,OTC Deficiencies,Ornithine Transcarbamylase Deficiencies